Varaico: Literature-Extracted Genetic Variants

Gene:UTP23
Variant:p.Q44R

UTP23

26 papers

Pfam Domains

Fcf1aa 51–149UCSCFcf1
UTP23_sensoraa 193–212UCSCUTP23 sensor motif

Gene Aliases

HGNC Name

UTP23 small subunit processome component

HGNC Previous Symbol

C8orf53

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032334.3
p.Q44R
c.131A>G
Surrounding Variants
1 paper
NM_032334.3
p.E47K
c.139G>A
2 papers
NM_032334.3
p.F34L
c.102C>A
2 papers
NM_032334.3
p.D31N
c.91G>A
1 paper
NM_032334.3
p.I28M
c.84C>G
1 paper
NM_032334.3
p.C60R
c.178T>C
1 paper
NM_032334.3
p.P25A
c.73C>G
1 paper
NM_032334.3
p.L69L
c.205C>T
1 paper
NM_032334.3
p.H114D
c.340C>G
1 paper
NM_032334.3
p.V129fs
c.385_386fs
1 paper
NM_032334.3
p.Q142Q
c.426G>A
1 paper
NM_032334.3
p.E180Q
c.538G>C
2 papers
NM_032334.3
p.K195Q
c.583A>C
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